Canonical Allele Identifier: CA464402357

Gene: GALT

Linked Data

• ClinVar Variation Id: 2770293
• ClinVar RCV Id: RCV003503976
• MyVariant Identifiers: chr9:g.34648444A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648447A>C , CM000671.2:g.34648447A>C	GRCh38
NC_000009.11:g.34648444A>C , CM000671.1:g.34648444A>C	GRCh37
NC_000009.10:g.34638444A>C	NCBI36
NG_009029.1:g.6810A>C
NG_028966.1:g.1263A>C
NG_009029.2:g.6859A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*266A>C	ENSP00000509954.1:n.*266A>C
ENST00000378842.8:c.678A>C MANE Select	ENSP00000368119.4:p.Leu226=
ENST00000378842.7:c.678A>C	ENSP00000368119.3:p.Leu226=
ENST00000450095.6:c.351A>C	ENSP00000401956.2:p.Leu117=
ENST00000472111.5:n.934A>C
ENST00000473506.6:c.*266A>C	ENSP00000432839.2:n.*266A>C
ENST00000473529.5:n.837A>C
ENST00000487381.5:n.1063A>C
ENST00000489643.6:n.453A>C
ENST00000554085.5:c.*422A>C	ENSP00000450419.1:n.*422A>C
ENST00000554550.5:c.*298A>C	ENSP00000451435.1:n.*298A>C
ENST00000554638.5:n.1150A>C
ENST00000555020.5:n.834A>C
ENST00000555086.5:n.682A>C
ENST00000555214.5:n.499A>C
ENST00000555754.1:n.23A>C
ENST00000556244.1:c.665A>C
ENST00000556278.1:c.423A>C	ENSP00000451792.1:p.Leu141=
ENST00000556494.5:n.799A>C
ENST00000557706.5:n.1240A>C
NM_000155.3:c.678A>C	NP_000146.2:p.Leu226=
NM_001258332.1:c.351A>C	NP_001245261.1:p.Leu117=
NM_000155.4:c.678A>C MANE Select	NP_000146.2:p.Leu226=
NM_001258332.2:c.351A>C	NP_001245261.1:p.Leu117=